Alpha-Methyl-Acetoacetyl-CoA Thiolase-Mangel
ALPHA-METHYLACETOACETIC ACIDURIA
OMIM: 203750
Synonyme
- MAT-Mangel
- 2-METHYL-3-HYDROXYBUTYRIC ACIDEMIA
- BETA-KETOTHIOLASE DEFICIENCY
- MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
- MAT DEFICIENCY
- T2 DEFICIENCY
Genorte
- ACAT1(OMIM 607809)